‘SZ like’α1-antitrypsin phenotypes in PI ZZ children with liver disease
✍ Scribed by D. B. WHITEHOUSE; J. U. LOVEGROVE; G. MIELI-VERGANI; A. P. MOWAT; D. A. HOPKINSON
- Book ID
- 115249539
- Publisher
- John Wiley and Sons
- Year
- 1994
- Tongue
- English
- Weight
- 638 KB
- Volume
- 58
- Category
- Article
- ISSN
- 0003-4800
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We present our experience with 18 pediatric patients with a,-antitrypsin deficiency of the PiZZ phenotype. Fifteen patients (83%) presented with neonatal cholestatic jaundice at a mean age of 2 f 0.6 months (2S.D.). The ma1e:female ratio was 15:3, indicating a male predominance. All metabolic, infec
Chronic liver disease affects up to 20% of children with alpha 1-antitrypsin deficiency owing to the PiZZ genotype. Previous observations of a familial occurrence and abnormal immune responses to liver antigens in these patients suggests that immunoregulatory genes may be involved in the pathogenesi